IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Pfaundler-Hurler Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553917428
rs1553917428
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1553917428
rs1553917428
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.700 CausalMutation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867 2012